A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1223



Internal ID15545786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25827765..25861966hg38UCSC Ensembl
Outerchr14:26296971..26331172hg19UCSC Ensembl
Outerchr14:25366811..25401012hg18UCSC Ensembl
Outerchr14:25366811..25401012hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385236
hg195236
hg185236
hg175236
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9176
SamplesNA12156
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1223
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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